T31K (p.Thr31Lys) variant of ETFDH (Q16134)
T31K (p.Thr31Lys) in ETFDH (Q16134) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
T31K (p.Thr31Lys) variant details
- p.Thr31Lys
- gnomAD 4-158680524-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.313
- REVEL 0.37
- CADD 12.80
- PolyPhen-2 0.00
- SIFT 0.72
- Population evidence available
- Structural context available
- Literature evidence available